Results 31 to 40 of about 57,426 (267)
Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]
, 2016 Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua +6 more
core +3 more sources
Redox Homeostasis in Muscular Dystrophies
Cells, 2021 In recent years, growing evidence has suggested a prominent role of oxidative stress in the pathophysiology of several early- and adult-onset muscle disorders, although effective antioxidant treatments are still lacking.
Nicola Mosca +6 more
doaj +1 more source
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core +2 more sources
Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations
International Journal of Endocrinology, 2012 Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Oriana del Rocío Cruz Guzmán +2 more
doaj +1 more source
Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]
, 2006 Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer, EJ +4 more
core +2 more sources
Hereditary muscular dystrophies
Бюллетень сибирской медицины, 2009 Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
V. B. Doronin, O. B. Doronina
doaj +1 more source
Crystal structures of the human Dysferlin inner DysF domain [PDF]
, 2014 Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R. +4 more
core +1 more source
Zebrafish models flex their muscles to shed light on muscular dystrophies
Disease Models & Mechanisms, 2012 Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening.
Joachim Berger, Peter D. Currie
doaj +1 more source
Archives of Anesthesia and Critical Care, 2022 Muscular dystrophies are a group of genetic diseases which cause progressive degeneration of skeletal muscle along with weakness. They are characterized by an impaired synthesis or regeneration of contractile protein.
Jyoti Deshpande +2 more
doaj +1 more source
Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]
, 2014 Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph +1 more
core +1 more source